Hyperinsulinism: Molecular aetiology of focal disease

F. Ryan; D. Devaney; C. Joyce; A. Nestorowicz; M. A. Permutt; B. Glaser; D. E. Barton; P. S. Thornton

doi:10.1136/adc.79.5.445

Hyperinsulinism: Molecular aetiology of focal disease

F. Ryan, D. Devaney, C. Joyce, A. Nestorowicz, M. A. Permutt, B. Glaser, D. E. Barton, P. S. Thornton

Research output: Contribution to journal › Article › peer-review

Abstract

Persistent hypoglycaemia in infancy is most commonly caused by hyperinsulinism. A case is reported of the somatic loss of the maternal 11p in an insulin secreting focal adenoma in association with a germline SUR-1 mutation on the paternal allele in a baby boy with hyperinsulinism diagnosed at 49 days old. A reduction to homozygosity of an SUR-1 mutation is proposed as a critical part of the cause of focal hyperinsulinism.

Original language	English
Pages (from-to)	445-447
Number of pages	3
Journal	Archives of Disease in Childhood
Volume	79
Issue number	5
DOIs	https://doi.org/10.1136/adc.79.5.445
Publication status	Published - 1998
Externally published	Yes

Keywords

Hyperinsulinism
Mutational analysis
Sulphonylurea receptor

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10.1136/adc.79.5.445

https://arrow.tudublin.ie/scschbioart/9Licence: CC BY-NC-SA

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title = "Hyperinsulinism: Molecular aetiology of focal disease",

abstract = "Persistent hypoglycaemia in infancy is most commonly caused by hyperinsulinism. A case is reported of the somatic loss of the maternal 11p in an insulin secreting focal adenoma in association with a germline SUR-1 mutation on the paternal allele in a baby boy with hyperinsulinism diagnosed at 49 days old. A reduction to homozygosity of an SUR-1 mutation is proposed as a critical part of the cause of focal hyperinsulinism.",

keywords = "Hyperinsulinism, Mutational analysis, Sulphonylurea receptor",

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AU - Ryan, F.

AU - Devaney, D.

AU - Joyce, C.

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AU - Permutt, M. A.

AU - Glaser, B.

AU - Barton, D. E.

AU - Thornton, P. S.

PY - 1998

Y1 - 1998

N2 - Persistent hypoglycaemia in infancy is most commonly caused by hyperinsulinism. A case is reported of the somatic loss of the maternal 11p in an insulin secreting focal adenoma in association with a germline SUR-1 mutation on the paternal allele in a baby boy with hyperinsulinism diagnosed at 49 days old. A reduction to homozygosity of an SUR-1 mutation is proposed as a critical part of the cause of focal hyperinsulinism.

AB - Persistent hypoglycaemia in infancy is most commonly caused by hyperinsulinism. A case is reported of the somatic loss of the maternal 11p in an insulin secreting focal adenoma in association with a germline SUR-1 mutation on the paternal allele in a baby boy with hyperinsulinism diagnosed at 49 days old. A reduction to homozygosity of an SUR-1 mutation is proposed as a critical part of the cause of focal hyperinsulinism.

KW - Hyperinsulinism

KW - Mutational analysis

KW - Sulphonylurea receptor

UR - https://www.scopus.com/pages/publications/0031765251

U2 - 10.1136/adc.79.5.445

DO - 10.1136/adc.79.5.445

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JO - Archives of Disease in Childhood

JF - Archives of Disease in Childhood

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ER -

Hyperinsulinism: Molecular aetiology of focal disease

Abstract

Keywords

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